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Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing, diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family histor...
Citation: Cerebellum & Ataxias 2020 7:13
The degenerative cerebellar ataxias comprise a large and heterogeneous group of neurological diseases whose hallmark clinical feature is ataxia, and which are accompanied, to variable degrees, by other feature...
Citation: Cerebellum & Ataxias 2020 7:12
Spinocerebellar ataxias (SCA) are highly heterogenous group of neurodegenerative diseases causing progressive cerebellar dysfunction. We report the first description of relative frequencies of the common SCA m...
Citation: Cerebellum & Ataxias 2020 7:11
Citation: Cerebellum & Ataxias 2020 7:10
Micturition depends on a complex voluntary and involuntarily neuronal network located at various levels of the nervous system. The mechanism is highly dependent on the hierarchical organization of central nerv...
Citation: Cerebellum & Ataxias 2020 7:9
Essential tremor is a common movement disorder with an unclear origin. Emerging evidence suggests the role of the cerebellum and the thalamus in tremor pathophysiology. We examined the two main neurotransmitte...
Citation: Cerebellum & Ataxias 2020 7:8
Spinocerebellar ataxia type 23 (SCA23) is an autosomal dominant cerebellar ataxia caused by pathogenic variants in the prodynorphin gene (PDYN). The frequency of PDYN variants is reportedly very low (~ 0.1%) in s...
Citation: Cerebellum & Ataxias 2020 7:7
Friedreich ataxia (FRDA) is the most frequent form of inherited ataxias. Vestibular and auditory assessments are not commonly part of the check up for these patients despite hearing and balance complaints. Scr...
Citation: Cerebellum & Ataxias 2020 7:6
Citation: Cerebellum & Ataxias 2020 7:5
The syndrome of oculopalatal tremor is a known consequence of lesions in the dentate-olivary pathway. Hypertrophic degeneration of the inferior olive is a recognized pathological correlate of these lesions and...
Citation: Cerebellum & Ataxias 2020 7:4
There is abundant evidence for cerebellar involvement in schizophrenia, where the cerebellum has been suggested to contribute to cognitive, affective and motor dysfunction. More recently, specific cerebellar r...
Citation: Cerebellum & Ataxias 2020 7:2
Severe Hypomagnesaemia is a rare biochemical findings utilized for identifying the etiology of cerebellar ataxia. It requires a high degree of suspicion to diagnose. MRI findings are often nonspecific.
Citation: Cerebellum & Ataxias 2020 7:1
The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on cli...
Citation: Cerebellum & Ataxias 2019 6:15
Mutations in the Inositol 1,4,5-Trisphosphate Receptor Type 1 (ITPR1) gene cause spinocerebellar ataxia type 29 (SCA29), a rare congenital-onset autosomal dominant non-progressive cerebellar ataxia. The Māori, in...
Citation: Cerebellum & Ataxias 2019 6:14
The spinocerebellar ataxias (SCA) are a heterogeneous group of progressive neurodegenerative disorders that are associated with diffuse cerebellar atrophy. While the physical symptoms of this condition have lo...
Citation: Cerebellum & Ataxias 2019 6:13
Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have ofte...
Citation: Cerebellum & Ataxias 2019 6:12
Disorders of the cerebellum may present with motor, cognitive, behavioral and affective symptoms. There is a growing interest in developing neuroanatomical models of symptoms generation that involve the cerebe...
Citation: Cerebellum & Ataxias 2019 6:11
Citation: Cerebellum & Ataxias 2019 6:10
The original article was published in Cerebellum & Ataxias 2019 6:6
Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charco...
Citation: Cerebellum & Ataxias 2019 6:9
Paraneoplastic cerebellar degeneration is usually associated with gynecological and breast cancer, lung cancer, and Hodgkin’s lymphoma. Renal cell carcinoma has rarely been described as an underlying malignanc...
Citation: Cerebellum & Ataxias 2019 6:8
Multiple system atrophy (MSA) is a sporadic adult-onset neurodegenerative disease with a cerebellar subtype where ataxic symptoms predominate (MSA-C) associated with autonomic dysfunction and a grave prognosis...
Citation: Cerebellum & Ataxias 2019 6:7
Within the context of Clausi, Olivito, Lupo, Siciliano, Bozzali and Leggio’s (Cell Neurosci 12:510, 2019) insightful study of how prediction of theory of mind (ToM) is compromised in degenerative cerebellar at...
Citation: Cerebellum & Ataxias 2019 6:6
The Publisher Correction to this article has been published in Cerebellum & Ataxias 2019 6:10
Tremor is a common side effect of treatment with lithium. Its characteristics can vary and when less rhythmical, distinction from myoclonus can be difficult.
Citation: Cerebellum & Ataxias 2019 6:5
Fetal magnetic resonance imaging (MRI), mainly performed at standard field strength, plays a role in the classification of posterior fossa malformations. In the context of early second-trimester screening, upw...
Citation: Cerebellum & Ataxias 2019 6:4
Cognitive decline is a common non-motor feature characterizing Spinocerebellar Ataxia type 2 (SCA2) during the prodromal stage, nevertheless a reduced number of surrogate biomarkers of these alterations have b...
Citation: Cerebellum & Ataxias 2019 6:3
CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cau...
Citation: Cerebellum & Ataxias 2019 6:2
Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze holding function (horizontal or downbeat n...
Citation: Cerebellum & Ataxias 2019 6:1
In Patients with spinocerebellar ataxia type 6 (SCA6) are often treated by transcranial magnetic stimulation (TMS) over the motor cortex and cerebellum. However, few reports have examined effective therapeutic...
Citation: Cerebellum & Ataxias 2018 5:15
Many children with neurofibromatosis type 1 (NF1) have focal abnormal signal intensities (FASI) on brain MRI, whose full clinical impact and natural history have not been studied systematically. Our aims are t...
Citation: Cerebellum & Ataxias 2018 5:14
Focal abnormal signal intensities (FASI) on brain MRI occur commonly in patients with neurofibromatosis type 1 (NF1). The natural history of cerebellar FASI and their correlation with clinical features have no...
Citation: Cerebellum & Ataxias 2018 5:13
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia, primarily due to sensory neuropathy as well as cerebellar...
Citation: Cerebellum & Ataxias 2018 5:12
Though the cerebellum’s role in visuospatial and fine motor functioning has been well-established over the last several years, the role of the cerebellum in emotion has more recently been a focus of scientific...
Citation: Cerebellum & Ataxias 2018 5:11
After publication of the original article [1], the authors reported their Given Names and Family names had been incorrectly reverted so they were presented as:
Citation: Cerebellum & Ataxias 2018 5:10
The original article was published in Cerebellum & Ataxias 2018 5:9
We seeked for specific cerebellar contribution within the dorsal attentional network (DAN), using Independent Component Analysis (ICA).
Citation: Cerebellum & Ataxias 2018 5:9
The Correction to this article has been published in Cerebellum & Ataxias 2018 5:10
The cerebellum has a striking homogeneous cytoarchitecture and participates in both motor and non-motor domains. Indeed, a wealth of evidence from neuroanatomical, electrophysiological, neuroimaging and clinic...
Citation: Cerebellum & Ataxias 2018 5:8
Joubert syndrome (JS) is a rare, autosomal recessively inherited genetic disorder characterized morphologically by unique developmental malformations of the cerebellum and brainstem (the molar tooth sign), and...
Citation: Cerebellum & Ataxias 2018 5:5
Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington dise...
Citation: Cerebellum & Ataxias 2018 5:7
Cranial-nerve non-invasive neuromodulation (CN-NINM) using the portable neuromodulation stimulator (PoNS™) device has been proposed as a novel adjuvant intervention to improve efficacy of gait and balance. This d...
Citation: Cerebellum & Ataxias 2018 5:6
Previous ROI-based functional connectivity studies found functional coherence between cerebellum and cerebral amygdale, at rest. Moreover, some neurospychiatric symptoms were accompanied by abnormal activation...
Citation: Cerebellum & Ataxias 2018 5:4
Autism is a neurodevelopmental disorder that is first manifested during early childhood. Postmortem experiments have identified significantly elevated expression of metabotropic glutamate receptor 5 (mGluR5) i...
Citation: Cerebellum & Ataxias 2018 5:3
The cerebellum, its normal functions and its diseases, and especially its relation to the control of eye movements, has been at the heart of my academic career. Here I review how this came about, with an empha...
Citation: Cerebellum & Ataxias 2018 5:2
In traditional models of essential tremor, the inferior olivary nucleus was posited to play a central role as the pacemaker for the tremor. However, recent data call this disease model into question.
Citation: Cerebellum & Ataxias 2018 5:1
The feasibility to administer magnetic and electric fields in a non-invasive manner to influence brain areas has attracted scientists interested in studying the neural correlates of normal and pathological for...
Citation: Cerebellum & Ataxias 2017 4:21
Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination wi...
Citation: Cerebellum & Ataxias 2017 4:20
Saccade slowing has been proposed as endophenotype marker in Spinocerebellar Ataxia type 2 (SCA2), nevertheless the heritability of this trait has not been properly demonstrated. Thus the present paper was aim...
Citation: Cerebellum & Ataxias 2017 4:19
Citation: Cerebellum & Ataxias 2017 4:18
To date, 43 types of Spinocerebellar Ataxias (SCAs) have been identified. A subset of the SCAs are caused by the pathogenic expansion of a CAG repeat tract within the corresponding gene. Ethnic and geographic ...
Citation: Cerebellum & Ataxias 2017 4:17
The cerebellum is a vulnerable target of autoimmunity in the CNS. The category of immune-mediated cerebellar ataxias (IMCAs) was recently established, and includes in particular paraneoplastic cerebellar degen...
Citation: Cerebellum & Ataxias 2017 4:16
The control of grip forces when moving a hand held object is impaired in patients with cerebellar degeneration. We asked the question whether after-effects of anodal transcranial direct current stimulation (tD...
Citation: Cerebellum & Ataxias 2017 4:15
Hemicerebellitisis a rare acquired condition, typical of the pediatric age. A residual switched handedness may develop after remission of acute cerebellar symptoms.
Citation: Cerebellum & Ataxias 2017 4:14
Cerebellum & Ataxias
